Touching Lives - December 2003

Genetic discovery offers hope to HSP sufferers

Those affected experience difficulty walking and may eventually require a wheelchair. Some patients with HSP suffer additional problems, including muscle wasting, seizures, mental retardation, abnormal movements and impaired vision. Estimates suggest there are between 3-6,000 people affected in the UK — and no treatments are currently available to prevent or slow the progression of this devastating disease.

There are many different types of HSP, and each has a different genetic cause. Thanks to £75,000 funding from Action Medical Research, one of the genes responsible for a type of HSP has been successfully identified. The gene is called KIF5A and its normal function is as a motor to transport ‘building blocks’ along the nerve cell connections that lead from the brain to the spinal cord.

Increased knowledge

Disruption of this normal transport mechanism almost certainly causes the degeneration seen in this particular HSP. The research was carried out at Addenbrooke’s Hospital in Cambridge and the successful outcome of the project increases our knowledge of the types of cellular abnormality that can lead to HSP and may give clues as to the causes of other more common neurological disorders.

Dr Evan Reid who led the study said: “The funding that Action Medical Research provided has enabled us to make significant advances in understanding the causes of hereditary forms of spastic paralysis.

“We have identified the gene that is the cause of one type of HSP, located a gene responsible for another type, and initiated a project aimed at discovering what cellular factors interact with the protein that is abnormal in the most common type of HSP. ^These advances would not have been made without the support of Action Medical Research^.”